Allele Registry

Canonical Allele Identifier: PA242682

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000176647

RCV000990370

RCV003441146

ClinVar Variation:

195956

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Thr731Met	CA242680 NM_001849.4:c.2192C>T